MYO5A

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.05418473
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.04359115
3locomotory exploration behavior (GO:0035641)5.91558826
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.33375922
5synaptic vesicle exocytosis (GO:0016079)5.29820151
6positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.20017091
7glutamate secretion (GO:0014047)5.10005192
8vocalization behavior (GO:0071625)5.06672385
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.99077636
10regulation of synaptic vesicle exocytosis (GO:2000300)4.91786261
11synaptic vesicle docking involved in exocytosis (GO:0016081)4.84146946
12regulation of glutamate receptor signaling pathway (GO:1900449)4.72342472
13exploration behavior (GO:0035640)4.55019369
14layer formation in cerebral cortex (GO:0021819)4.54932855
15regulation of synapse structural plasticity (GO:0051823)4.40294256
16protein localization to synapse (GO:0035418)4.39568019
17ionotropic glutamate receptor signaling pathway (GO:0035235)4.31196717
18proline transport (GO:0015824)4.31040706
19regulation of synaptic vesicle transport (GO:1902803)4.30035005
20neurotransmitter secretion (GO:0007269)4.25579600
21neuron cell-cell adhesion (GO:0007158)4.20707287
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.18392337
23regulation of neuronal synaptic plasticity (GO:0048168)4.09579147
24regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.04684546
25neuronal action potential propagation (GO:0019227)4.02432911
26amino acid import (GO:0043090)3.93495204
27dendritic spine morphogenesis (GO:0060997)3.83396156
28gamma-aminobutyric acid transport (GO:0015812)3.81868450
29glutamate receptor signaling pathway (GO:0007215)3.80715521
30synaptic transmission, glutamatergic (GO:0035249)3.75937443
31cellular potassium ion homeostasis (GO:0030007)3.73476058
32neurotransmitter-gated ion channel clustering (GO:0072578)3.69842477
33activation of protein kinase A activity (GO:0034199)3.68341803
34cerebellar Purkinje cell differentiation (GO:0021702)3.63113488
35dendrite morphogenesis (GO:0048813)3.61710598
36neuron-neuron synaptic transmission (GO:0007270)3.61128950
37regulation of excitatory postsynaptic membrane potential (GO:0060079)3.60077087
38membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.59370177
39long-term memory (GO:0007616)3.56719634
40neuromuscular process controlling balance (GO:0050885)3.53885714
41* melanin biosynthetic process (GO:0042438)3.53250152
42synaptic vesicle endocytosis (GO:0048488)3.53240107
43sodium ion export (GO:0071436)3.52977934
44vesicle transport along microtubule (GO:0047496)3.44881850
45positive regulation of membrane potential (GO:0045838)3.42889134
46regulation of postsynaptic membrane potential (GO:0060078)3.41968730
47positive regulation of synapse maturation (GO:0090129)3.38478459
48neurotransmitter transport (GO:0006836)3.36606684
49regulation of dendritic spine morphogenesis (GO:0061001)3.36374625
50regulation of synaptic plasticity (GO:0048167)3.34934932
51regulation of neurotransmitter secretion (GO:0046928)3.32738112
52neuron recognition (GO:0008038)3.32074417
53regulation of ARF protein signal transduction (GO:0032012)3.30774483
54regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.27941373
55* melanin metabolic process (GO:0006582)3.26697080
56axonal fasciculation (GO:0007413)3.26620149
57regulation of synaptic transmission, glutamatergic (GO:0051966)3.20795235
58negative regulation of dendrite morphogenesis (GO:0050774)3.19564052
59potassium ion homeostasis (GO:0055075)3.18525818
60prepulse inhibition (GO:0060134)3.17731444
61clathrin coat assembly (GO:0048268)3.17391346
62long-term synaptic potentiation (GO:0060291)3.16865648
63neuronal ion channel clustering (GO:0045161)3.16755157
64cytoskeletal anchoring at plasma membrane (GO:0007016)3.16306983
65auditory behavior (GO:0031223)3.14124317
66positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.11806986
67presynaptic membrane organization (GO:0097090)3.11608781
68regulation of clathrin-mediated endocytosis (GO:2000369)3.11386288
69response to auditory stimulus (GO:0010996)3.11303066
70presynaptic membrane assembly (GO:0097105)3.11238428
71gamma-aminobutyric acid signaling pathway (GO:0007214)3.11031424
72regulation of neurotransmitter levels (GO:0001505)3.10082472
73organelle transport along microtubule (GO:0072384)3.09012840
74membrane depolarization during action potential (GO:0086010)3.07624245
75positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.06773177
76glycine transport (GO:0015816)3.06729269
77transmission of nerve impulse (GO:0019226)3.04996563
78regulation of vesicle fusion (GO:0031338)3.03701116
79regulation of neurotransmitter transport (GO:0051588)3.03249609
80positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.02766374
81potassium ion import (GO:0010107)3.02547759
82negative regulation of synaptic transmission, GABAergic (GO:0032229)3.02175818
83establishment of nucleus localization (GO:0040023)3.01832354
84G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.01641146
85membrane depolarization (GO:0051899)3.00360723
86postsynaptic membrane organization (GO:0001941)2.98326626
87regulation of voltage-gated calcium channel activity (GO:1901385)2.97591257
88positive regulation of dendritic spine development (GO:0060999)2.96676801
89regulation of dendritic spine development (GO:0060998)2.96596057
90cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.96485821
91positive regulation of synaptic transmission, GABAergic (GO:0032230)2.95884637
92innervation (GO:0060384)2.94666346
93synapse assembly (GO:0007416)2.91724754
94positive regulation of neurotransmitter secretion (GO:0001956)2.91536659
95L-amino acid import (GO:0043092)2.89706016
96positive regulation of neurotransmitter transport (GO:0051590)2.89054507
97response to histamine (GO:0034776)2.88717806
98neuromuscular process (GO:0050905)2.86953581
99cell migration in hindbrain (GO:0021535)2.86745112
100regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.86585722
101positive regulation of fibroblast migration (GO:0010763)2.85121177
102central nervous system projection neuron axonogenesis (GO:0021952)2.84992034
103cell communication by electrical coupling (GO:0010644)2.84666446
104cellular sodium ion homeostasis (GO:0006883)2.84651643
105social behavior (GO:0035176)2.84085397
106intraspecies interaction between organisms (GO:0051703)2.84085397
107G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.83575319
108regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.80559077
109cerebellar granule cell differentiation (GO:0021707)2.79243729
110learning (GO:0007612)2.78542593
111positive regulation of synaptic transmission (GO:0050806)2.78309479
112axon cargo transport (GO:0008088)2.78298013
113nerve growth factor signaling pathway (GO:0038180)2.77417838
114cerebellar Purkinje cell layer development (GO:0021680)2.76744635
115membrane assembly (GO:0071709)2.76614647
116regulation of synaptic transmission (GO:0050804)2.75781461
117acidic amino acid transport (GO:0015800)2.70452876
118central nervous system myelination (GO:0022010)2.66008893
119axon ensheathment in central nervous system (GO:0032291)2.66008893
120regulation of synapse maturation (GO:0090128)2.64696202
121negative regulation of dendrite development (GO:2000171)2.62663821
122cell differentiation in hindbrain (GO:0021533)2.62110336
123establishment of synaptic vesicle localization (GO:0097480)2.59008782

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.40759498
2GBX2_23144817_ChIP-Seq_PC3_Human3.39329500
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.88074631
4JARID2_20064375_ChIP-Seq_MESCs_Mouse2.79201847
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.79065755
6DROSHA_22980978_ChIP-Seq_HELA_Human2.64880210
7RARB_27405468_Chip-Seq_BRAIN_Mouse2.61021797
8REST_21632747_ChIP-Seq_MESCs_Mouse2.56055927
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.51529035
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.51529035
11SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.38395443
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.35255192
13ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.33416586
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.31548535
15JARID2_20075857_ChIP-Seq_MESCs_Mouse2.30685733
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.24337419
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.23194130
18EZH2_27304074_Chip-Seq_ESCs_Mouse2.12572933
19EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.10739856
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.03398516
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.03328704
22AR_21572438_ChIP-Seq_LNCaP_Human2.00726076
23IKZF1_21737484_ChIP-ChIP_HCT116_Human1.97882495
24SUZ12_27294783_Chip-Seq_ESCs_Mouse1.95736826
25EZH2_27294783_Chip-Seq_ESCs_Mouse1.93502588
26EED_16625203_ChIP-ChIP_MESCs_Mouse1.86622133
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.83159007
28CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.79720334
29SMAD_19615063_ChIP-ChIP_OVARY_Human1.78681651
30SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.78491677
31GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.78437102
32NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.70563523
33SMAD4_21799915_ChIP-Seq_A2780_Human1.68464422
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.66319585
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.47554670
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.43905849
37* SOX2_21211035_ChIP-Seq_LN229_Gbm1.42499066
38NR3C1_23031785_ChIP-Seq_PC12_Mouse1.40782625
39VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.37928077
40SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.37503723
41ERG_21242973_ChIP-ChIP_JURKAT_Human1.35921576
42CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35341806
43STAT3_23295773_ChIP-Seq_U87_Human1.34316738
44TAF15_26573619_Chip-Seq_HEK293_Human1.33646162
45* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.32498433
46WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.30801523
47ZNF274_21170338_ChIP-Seq_K562_Hela1.30744727
48* AR_19668381_ChIP-Seq_PC3_Human1.29614358
49AR_25329375_ChIP-Seq_VCAP_Human1.29280473
50WT1_25993318_ChIP-Seq_PODOCYTE_Human1.28807900
51* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.28506738
52P300_19829295_ChIP-Seq_ESCs_Human1.27341590
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.26874772
54THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.26733978
55TP53_16413492_ChIP-PET_HCT116_Human1.25380557
56* KDM2B_26808549_Chip-Seq_K562_Human1.24394371
57IGF1R_20145208_ChIP-Seq_DFB_Human1.24178705
58ARNT_22903824_ChIP-Seq_MCF-7_Human1.23127601
59AHR_22903824_ChIP-Seq_MCF-7_Human1.22174660
60RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.19902707
61TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.19695742
62* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18403229
63ZFP57_27257070_Chip-Seq_ESCs_Mouse1.17374407
64* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.17096790
65SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.15994918
66RING1B_27294783_Chip-Seq_ESCs_Mouse1.15752231
67YAP1_20516196_ChIP-Seq_MESCs_Mouse1.15456038
68TCF4_23295773_ChIP-Seq_U87_Human1.15237299
69SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14620644
70RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.14429228
71PIAS1_25552417_ChIP-Seq_VCAP_Human1.13929505
72TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13745591
73EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.13154276
74DNAJC2_21179169_ChIP-ChIP_NT2_Human1.12565608
75GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.11480314
76* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.11016676
77P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10340680
78ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08938883
79TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08239034
80BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.07656401
81CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.06683099
82EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.06349187
83RXR_22108803_ChIP-Seq_LS180_Human1.06323543
84* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.05825186
85SMAD3_21741376_ChIP-Seq_ESCs_Human1.04973192
86LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04652910
87TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03746002
88RING1B_27294783_Chip-Seq_NPCs_Mouse1.03532993
89TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01691525
90CTNNB1_20460455_ChIP-Seq_HCT116_Human1.00880300
91ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.99420396
92NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.99025413
93NRF2_20460467_ChIP-Seq_MEFs_Mouse0.99025413
94PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.98498242
95KDM2B_26808549_Chip-Seq_REH_Human0.98484896
96GATA2_21666600_ChIP-Seq_HMVEC_Human0.98267789
97DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.98118477
98GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97964392
99NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.97741672
100* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.97538212
101* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.97151233
102MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.95898268
103RUNX2_22187159_ChIP-Seq_PCA_Human0.95394981
104SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95202203
105NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95152000
106EP300_21415370_ChIP-Seq_HL-1_Mouse0.94658160
107ZFP281_27345836_Chip-Seq_ESCs_Mouse0.94483835
108TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.94107062
109PRDM14_20953172_ChIP-Seq_ESCs_Human0.93598534
110NANOG_18555785_Chip-Seq_ESCs_Mouse0.93392007
111TP53_18474530_ChIP-ChIP_U2OS_Human0.92372460
112POU3F2_20337985_ChIP-ChIP_501MEL_Human0.92072662
113* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.91346324
114SMAD4_21741376_ChIP-Seq_HESCs_Human0.90244606
115NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.89652675
116SMAD3_21741376_ChIP-Seq_HESCs_Human0.89588959
117ESR2_21235772_ChIP-Seq_MCF-7_Human0.89414724
118JUN_21703547_ChIP-Seq_K562_Human0.87209201
119TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86751698
120POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.86751698

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.95277523
2MP0003880_abnormal_central_pattern4.24471568
3MP0003635_abnormal_synaptic_transmissio4.24436536
4MP0004270_analgesia3.83317842
5MP0002063_abnormal_learning/memory/cond3.35379841
6MP0009745_abnormal_behavioral_response3.31482709
7* MP0009046_muscle_twitch3.13319496
8* MP0002064_seizures3.12061247
9MP0001968_abnormal_touch/_nociception3.03462465
10MP0005423_abnormal_somatic_nervous2.83117459
11MP0002572_abnormal_emotion/affect_behav2.74526364
12MP0002734_abnormal_mechanical_nocicepti2.71330605
13MP0001486_abnormal_startle_reflex2.43549968
14MP0002272_abnormal_nervous_system2.35606051
15MP0002735_abnormal_chemical_nociception2.29962228
16MP0009780_abnormal_chondrocyte_physiolo2.26812477
17MP0002822_catalepsy2.21161503
18MP0002736_abnormal_nociception_after2.19780456
19MP0002733_abnormal_thermal_nociception2.12216187
20MP0001501_abnormal_sleep_pattern2.11208053
21* MP0000015_abnormal_ear_pigmentation2.11047922
22MP0004858_abnormal_nervous_system2.09949138
23MP0003136_yellow_coat_color2.06711047
24MP0004811_abnormal_neuron_physiology2.02240410
25MP0002909_abnormal_adrenal_gland1.99871712
26MP0001440_abnormal_grooming_behavior1.97468330
27MP0001970_abnormal_pain_threshold1.96997020
28* MP0002067_abnormal_sensory_capabilities1.91992204
29MP0002184_abnormal_innervation1.85219982
30MP0000778_abnormal_nervous_system1.84860413
31MP0004924_abnormal_behavior1.83656928
32MP0005386_behavior/neurological_phenoty1.83656928
33MP0002877_abnormal_melanocyte_morpholog1.80483800
34MP0003329_amyloid_beta_deposits1.77938894
35* MP0008569_lethality_at_weaning1.77913698
36MP0002557_abnormal_social/conspecific_i1.71456079
37MP0003172_abnormal_lysosome_physiology1.66401949
38MP0000955_abnormal_spinal_cord1.62200429
39MP0003787_abnormal_imprinting1.61678813
40MP0004381_abnormal_hair_follicle1.59134695
41MP0003633_abnormal_nervous_system1.47568695
42MP0003879_abnormal_hair_cell1.44395662
43MP0002882_abnormal_neuron_morphology1.41985144
44MP0004885_abnormal_endolymph1.40114193
45* MP0002066_abnormal_motor_capabilities/c1.39907938
46MP0001984_abnormal_olfaction1.36663066
47MP0005257_abnormal_intraocular_pressure1.33443400
48MP0006276_abnormal_autonomic_nervous1.31044405
49* MP0002095_abnormal_skin_pigmentation1.30204647
50MP0005646_abnormal_pituitary_gland1.29102847
51MP0003631_nervous_system_phenotype1.23351537
52MP0005408_hypopigmentation1.20414670
53* MP0000371_diluted_coat_color1.19103258
54MP0002152_abnormal_brain_morphology1.14406987
55MP0000604_amyloidosis1.12845285
56MP0005645_abnormal_hypothalamus_physiol1.11716985
57MP0003690_abnormal_glial_cell1.11455341
58MP0005075_abnormal_melanosome_morpholog1.10354315
59MP0003303_peritoneal_inflammation1.08150797
60MP0003634_abnormal_glial_cell1.06195692
61MP0001299_abnormal_eye_distance/1.05461511
62MP0005171_absent_coat_pigmentation1.05133896
63MP0005058_abnormal_lysosome_morphology1.02990683
64* MP0005174_abnormal_tail_pigmentation1.02261142
65MP0008961_abnormal_basal_metabolism1.00664670
66MP0004510_myositis1.00212996
67MP0001502_abnormal_circadian_rhythm0.99606821
68MP0002090_abnormal_vision0.97945341
69MP0003183_abnormal_peptide_metabolism0.97940787
70MP0000751_myopathy0.96640830
71MP0003632_abnormal_nervous_system0.96581162
72MP0003283_abnormal_digestive_organ0.95111081
73MP0002229_neurodegeneration0.93371318
74* MP0000569_abnormal_digit_pigmentation0.92704330
75MP0003122_maternal_imprinting0.92395327
76MP0001177_atelectasis0.92000448
77MP0003075_altered_response_to0.89868833
78MP0005623_abnormal_meninges_morphology0.89616132
79MP0008874_decreased_physiological_sensi0.86638808
80MP0001188_hyperpigmentation0.86061605
81MP0004142_abnormal_muscle_tone0.85532406
82MP0004742_abnormal_vestibular_system0.84523868
83MP0000920_abnormal_myelination0.84059091
84MP0001905_abnormal_dopamine_level0.83931882
85MP0000013_abnormal_adipose_tissue0.82422394
86MP0002069_abnormal_eating/drinking_beha0.81174589
87MP0010386_abnormal_urinary_bladder0.81120715
88MP0003091_abnormal_cell_migration0.80123549
89* MP0002075_abnormal_coat/hair_pigmentati0.77555267
90MP0000579_abnormal_nail_morphology0.73073713
91MP0004233_abnormal_muscle_weight0.72484609
92MP0008260_abnormal_autophagy0.71340597
93MP0005409_darkened_coat_color0.70934246
94MP0010234_abnormal_vibrissa_follicle0.70177385
95MP0004145_abnormal_muscle_electrophysio0.69583373
96MP0003045_fibrosis0.69257033
97MP0001348_abnormal_lacrimal_gland0.68287658
98MP0008872_abnormal_physiological_respon0.67799591
99MP0004085_abnormal_heartbeat0.65853059
100MP0001963_abnormal_hearing_physiology0.64609419
101MP0005248_abnormal_Harderian_gland0.64320709
102MP0005167_abnormal_blood-brain_barrier0.64193886
103* MP0001186_pigmentation_phenotype0.64162095
104MP0005535_abnormal_body_temperature0.63146765
105MP0002638_abnormal_pupillary_reflex0.60989414
106MP0001529_abnormal_vocalization0.60326581
107MP0005551_abnormal_eye_electrophysiolog0.60030617
108MP0002752_abnormal_somatic_nervous0.58552009
109MP0000372_irregular_coat_pigmentation0.58456666
110MP0000631_abnormal_neuroendocrine_gland0.58255250
111MP0001324_abnormal_eye_pigmentation0.57858808
112MP0003861_abnormal_nervous_system0.56834911
113MP0001943_abnormal_respiration0.56643595
114MP0001958_emphysema0.56428489
115MP0004130_abnormal_muscle_cell0.55642143
116MP0004484_altered_response_of0.55625727
117MP0005394_taste/olfaction_phenotype0.55344922
118MP0005499_abnormal_olfactory_system0.55344922
119* MP0010769_abnormal_survival0.54496748
120MP0002089_abnormal_postnatal_growth/wei0.54060088
121MP0005388_respiratory_system_phenotype0.52178832
122MP0002133_abnormal_respiratory_system0.52178832
123MP0002998_abnormal_bone_remodeling0.49995301
124MP0001485_abnormal_pinna_reflex0.49060620

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.22579608
2Myokymia (HP:0002411)5.72178068
3Focal seizures (HP:0007359)5.27173905
4Visual hallucinations (HP:0002367)4.81581916
5Epileptic encephalopathy (HP:0200134)4.19866867
6Action tremor (HP:0002345)3.99969934
7Progressive cerebellar ataxia (HP:0002073)3.99657400
8Supranuclear gaze palsy (HP:0000605)3.92421820
9Atonic seizures (HP:0010819)3.89364800
10Papilledema (HP:0001085)3.86023352
11Febrile seizures (HP:0002373)3.82171595
12Absence seizures (HP:0002121)3.59417525
13Mutism (HP:0002300)3.54677121
14* Ocular albinism (HP:0001107)3.32339597
15Urinary bladder sphincter dysfunction (HP:0002839)3.32218329
16Generalized tonic-clonic seizures (HP:0002069)3.29428441
17Dialeptic seizures (HP:0011146)3.27415942
18Ankle clonus (HP:0011448)3.25414125
19Broad-based gait (HP:0002136)3.24556504
20Gaze-evoked nystagmus (HP:0000640)3.15944134
21Poor eye contact (HP:0000817)3.11673537
22Impaired vibration sensation in the lower limbs (HP:0002166)3.07879198
23Truncal ataxia (HP:0002078)3.00641517
24Genetic anticipation (HP:0003743)2.98942644
25Depression (HP:0000716)2.95748639
26* Iris hypopigmentation (HP:0007730)2.92736409
27Postural instability (HP:0002172)2.91363790
28Peripheral hypomyelination (HP:0007182)2.86951655
29Abnormal social behavior (HP:0012433)2.86900925
30Impaired social interactions (HP:0000735)2.86900925
31Urinary urgency (HP:0000012)2.83672051
32Inappropriate behavior (HP:0000719)2.83364839
33Dysdiadochokinesis (HP:0002075)2.81333021
34Drooling (HP:0002307)2.80446565
35Excessive salivation (HP:0003781)2.80446565
36Impaired smooth pursuit (HP:0007772)2.78499600
37Diplopia (HP:0000651)2.70293098
38Abnormality of binocular vision (HP:0011514)2.70293098
39Termporal pattern (HP:0011008)2.66793381
40Insidious onset (HP:0003587)2.66793381
41Dysmetria (HP:0001310)2.62889235
42Abnormal eating behavior (HP:0100738)2.57016404
43Heterochromia iridis (HP:0001100)2.55780153
44Progressive inability to walk (HP:0002505)2.52959048
45Abnormality of ocular smooth pursuit (HP:0000617)2.51850507
46Dysmetric saccades (HP:0000641)2.44782565
47Stereotypic behavior (HP:0000733)2.41872024
48Cerebral inclusion bodies (HP:0100314)2.41175104
49Abnormality of the lower motor neuron (HP:0002366)2.40347407
50Torticollis (HP:0000473)2.39564486
51Lower limb amyotrophy (HP:0007210)2.38664147
52Spastic gait (HP:0002064)2.36729863
53Hemiplegia (HP:0002301)2.36504188
54Hypoplasia of the fovea (HP:0007750)2.32811043
55Aplasia/Hypoplasia of the fovea (HP:0008060)2.32811043
56Abnormality of the corticospinal tract (HP:0002492)2.32670425
57Apathy (HP:0000741)2.32601313
58Anxiety (HP:0000739)2.32015536
59White forelock (HP:0002211)2.30134364
60Amblyopia (HP:0000646)2.29870050
61Hyperventilation (HP:0002883)2.29636686
62Bradykinesia (HP:0002067)2.29564881
63Neurofibrillary tangles (HP:0002185)2.28809276
64Abnormality of liposaccharide metabolism (HP:0010968)2.28454029
65Abnormality of glycosphingolipid metabolism (HP:0004343)2.28454029
66Abnormality of glycolipid metabolism (HP:0010969)2.28454029
67Blue irides (HP:0000635)2.28235461
68Intention tremor (HP:0002080)2.28030247
69Pointed chin (HP:0000307)2.26473908
70Neuronal loss in central nervous system (HP:0002529)2.26199101
71Hemiparesis (HP:0001269)2.25809077
72Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.21347760
73Degeneration of the lateral corticospinal tracts (HP:0002314)2.21347760
74Absent speech (HP:0001344)2.21021973
75Scanning speech (HP:0002168)2.18328034
76Aplasia/Hypoplasia of the macula (HP:0008059)2.17610161
77Macroorchidism (HP:0000053)2.15933418
78Agitation (HP:0000713)2.14731125
79Lower limb muscle weakness (HP:0007340)2.14641158
80Hypopigmentation of the fundus (HP:0007894)2.13902911
81Aqueductal stenosis (HP:0002410)2.11537171
82Amyotrophic lateral sclerosis (HP:0007354)2.11028389
83Megalencephaly (HP:0001355)2.10503018
84Hypoplasia of the iris (HP:0007676)2.10121843
85Diminished motivation (HP:0000745)2.08764253
86Fetal akinesia sequence (HP:0001989)2.07630056
87Epileptiform EEG discharges (HP:0011182)2.07522460
88Resting tremor (HP:0002322)2.05327062
89Impaired vibratory sensation (HP:0002495)2.05108681
90Focal dystonia (HP:0004373)2.04342568
91EEG with generalized epileptiform discharges (HP:0011198)2.02909469
92Limb dystonia (HP:0002451)2.01826229
93Obstructive sleep apnea (HP:0002870)1.99410688
94Aplasia/Hypoplasia affecting the retina (HP:0008061)1.99361703
95Akinesia (HP:0002304)1.97059025
96Global brain atrophy (HP:0002283)1.96833963
97Hypsarrhythmia (HP:0002521)1.95336726
98Rigidity (HP:0002063)1.94538080
99Disinhibition (HP:0000734)1.93309322
100Lower limb asymmetry (HP:0100559)1.93033226
101Tetraplegia (HP:0002445)1.91822472
102Abnormality of the fovea (HP:0000493)1.91682319
103Insomnia (HP:0100785)1.90134085
104Decreased motor nerve conduction velocity (HP:0003431)1.88409468
105Inability to walk (HP:0002540)1.87005016
106Patchy hypopigmentation of hair (HP:0011365)1.85676243
107Clonus (HP:0002169)1.85503062
108Abnormality of salivation (HP:0100755)1.85086771
109Pheochromocytoma (HP:0002666)1.84887578
110Dysostosis multiplex (HP:0000943)1.84011053
111Craniofacial dystonia (HP:0012179)1.83794826
112Absent frontal sinuses (HP:0002688)1.83614709
113Ankyloglossia (HP:0010296)1.83176663
114Polyphagia (HP:0002591)1.82029865
115Status epilepticus (HP:0002133)1.81887346
116Increased cerebral lipofuscin (HP:0011813)1.79865190
117Spastic paraplegia (HP:0001258)1.79116123
118Annular pancreas (HP:0001734)1.78548400
119Abnormality of the periventricular white matter (HP:0002518)1.78004421
120Generalized myoclonic seizures (HP:0002123)1.77490194
121Paraplegia (HP:0010550)1.77291293
122Gait ataxia (HP:0002066)1.75822985
123Abnormality of saccadic eye movements (HP:0000570)1.73566734
124Rapidly progressive (HP:0003678)1.73377812
125Protruding tongue (HP:0010808)1.71307662
126Postural tremor (HP:0002174)1.70318713
127Incomplete penetrance (HP:0003829)1.67863724

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K94.26247377
2NTRK34.10420941
3MARK13.96665967
4EPHA43.49658497
5MAP3K43.06135967
6MINK12.71602908
7DAPK22.56915490
8PAK62.45715950
9RIPK42.30369370
10MAP2K72.30306084
11CAMKK12.22645746
12KSR22.15029200
13NTRK22.11107094
14NTRK12.01938161
15PRKD31.81519219
16SIK21.81442875
17MAP2K41.77597352
18KSR11.60202741
19CAMKK21.56024737
20CDK51.55764522
21PLK21.52188707
22DAPK11.46012026
23SCYL21.43513435
24STK381.34178364
25MAP3K121.34157855
26MAP3K21.33784077
27FES1.30305852
28MAPK131.26546057
29CASK1.23690154
30LATS21.21456888
31RET1.17818730
32CAMK1G1.17290906
33MAP3K131.12340787
34PNCK1.09971318
35TAOK11.09964444
36GRK51.06792437
37RIPK11.05396982
38PHKG21.04608001
39PHKG11.04608001
40PRKCG1.04435229
41PRPF4B1.01899872
42PRKCH0.98616751
43ALK0.98554217
44CDK190.98547467
45TYRO30.97643594
46STK110.94706781
47TNIK0.92390197
48SGK30.89356558
49SGK20.88237508
50NEK60.86399697
51UHMK10.85262634
52CDK180.85139463
53CDK150.85122257
54SGK2230.82672157
55SGK4940.82672157
56CSNK1G20.81995402
57CDK140.81262996
58SGK10.79166121
59CAMK10.76621133
60MARK20.76042791
61ARAF0.73946864
62CAMK2A0.72143613
63CDK11A0.71276098
64PDK10.70872784
65RAF10.70594865
66PAK30.70537431
67ERBB30.68112176
68MAPK70.63562589
69JAK10.63014404
70PDPK10.62960666
71PINK10.60857519
72PTK2B0.60739615
73ROCK20.60539414
74FYN0.59496400
75MOS0.58644940
76WNK10.57608991
77PDGFRB0.56825496
78CAMK1D0.56738049
79PKN10.56020632
80RPS6KA20.54771883
81DDR20.53857845
82DYRK1A0.53798338
83LMTK20.52775081
84RPS6KA30.52226521
85MAPK100.51637378
86PRKCZ0.51636974
87FGR0.50104513
88CDC42BPA0.49881131
89CCNB10.48532290
90MAP3K60.46117566
91BMX0.45372481
92FGFR30.43143191
93CSNK1A1L0.43011594
94NEK10.41882809
95IRAK20.41741124
96CAMK40.41718633
97PRKCE0.40644034
98CAMK2B0.40590479
99MAP3K10.40279186
100CAMK2G0.40272217
101PDGFRA0.40093223
102JAK20.39648875
103DMPK0.39221477
104MAP3K110.37678331
105FER0.36870859
106BMPR20.36798341
107BRSK10.36072262
108PRKD10.35598958
109FGFR20.35570586
110TRIB30.35326451
111ERBB20.34954389
112PRKCB0.34812702
113SYK0.34560566
114TNK20.34399191
115CAMK2D0.34281485
116DAPK30.32571398
117MAPK120.31299633
118MAPK80.30620179
119MAP2K10.30102048
120SRC0.29351665

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.06122524
2Nicotine addiction_Homo sapiens_hsa050333.00504502
3Olfactory transduction_Homo sapiens_hsa047402.57688623
4Long-term potentiation_Homo sapiens_hsa047202.39825721
5Circadian entrainment_Homo sapiens_hsa047132.38380820
6GABAergic synapse_Homo sapiens_hsa047272.29468383
7Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.26079612
8Glutamatergic synapse_Homo sapiens_hsa047242.23453767
9Morphine addiction_Homo sapiens_hsa050322.20951563
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.10362689
11Amphetamine addiction_Homo sapiens_hsa050312.04718907
12Dopaminergic synapse_Homo sapiens_hsa047281.97876425
13Salivary secretion_Homo sapiens_hsa049701.93213493
14Cholinergic synapse_Homo sapiens_hsa047251.82438610
15Insulin secretion_Homo sapiens_hsa049111.74124809
16Gastric acid secretion_Homo sapiens_hsa049711.71165281
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.69857205
18Long-term depression_Homo sapiens_hsa047301.59962225
19Renin secretion_Homo sapiens_hsa049241.57776240
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.56121988
21Oxytocin signaling pathway_Homo sapiens_hsa049211.56065662
22GnRH signaling pathway_Homo sapiens_hsa049121.45081400
23Type II diabetes mellitus_Homo sapiens_hsa049301.44712863
24Cocaine addiction_Homo sapiens_hsa050301.44380390
25Glioma_Homo sapiens_hsa052141.40842174
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.39594217
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.39584149
28Serotonergic synapse_Homo sapiens_hsa047261.38451846
29Taste transduction_Homo sapiens_hsa047421.37778366
30Gap junction_Homo sapiens_hsa045401.33823132
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31806223
32Calcium signaling pathway_Homo sapiens_hsa040201.30896975
33Estrogen signaling pathway_Homo sapiens_hsa049151.27555546
34Phosphatidylinositol signaling system_Homo sapiens_hsa040701.26235534
35Collecting duct acid secretion_Homo sapiens_hsa049661.25670149
36cAMP signaling pathway_Homo sapiens_hsa040241.17680957
37Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.16954005
38ErbB signaling pathway_Homo sapiens_hsa040121.15687218
39Axon guidance_Homo sapiens_hsa043601.11101307
40Melanogenesis_Homo sapiens_hsa049161.02761330
41Dorso-ventral axis formation_Homo sapiens_hsa043201.01468882
42Neurotrophin signaling pathway_Homo sapiens_hsa047221.01115089
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.00883126
44Phospholipase D signaling pathway_Homo sapiens_hsa040720.97895070
45Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.94672781
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90427229
47mTOR signaling pathway_Homo sapiens_hsa041500.89883485
48Oocyte meiosis_Homo sapiens_hsa041140.88552201
49Carbohydrate digestion and absorption_Homo sapiens_hsa049730.82060822
50Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.81890779
51Vascular smooth muscle contraction_Homo sapiens_hsa042700.81592500
52Vibrio cholerae infection_Homo sapiens_hsa051100.81029992
53MAPK signaling pathway_Homo sapiens_hsa040100.80415465
54VEGF signaling pathway_Homo sapiens_hsa043700.80330421
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80178261
56Prion diseases_Homo sapiens_hsa050200.79565504
57Choline metabolism in cancer_Homo sapiens_hsa052310.78885705
58Endometrial cancer_Homo sapiens_hsa052130.77076996
59Thyroid hormone synthesis_Homo sapiens_hsa049180.74108788
60Sphingolipid signaling pathway_Homo sapiens_hsa040710.72907747
61Dilated cardiomyopathy_Homo sapiens_hsa054140.72520572
62Thyroid hormone signaling pathway_Homo sapiens_hsa049190.72301290
63Osteoclast differentiation_Homo sapiens_hsa043800.70570077
64Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.70144176
65Endocytosis_Homo sapiens_hsa041440.70046483
66Non-small cell lung cancer_Homo sapiens_hsa052230.69384783
67Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.68749063
68Pancreatic secretion_Homo sapiens_hsa049720.68684571
69Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.68538852
70Renal cell carcinoma_Homo sapiens_hsa052110.68242298
71Rap1 signaling pathway_Homo sapiens_hsa040150.66018550
72Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.64677588
73Ras signaling pathway_Homo sapiens_hsa040140.64058697
74Chemokine signaling pathway_Homo sapiens_hsa040620.63648763
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.62904361
76Inositol phosphate metabolism_Homo sapiens_hsa005620.62142267
77Colorectal cancer_Homo sapiens_hsa052100.61031532
78Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.59920382
79Amoebiasis_Homo sapiens_hsa051460.59797543
80AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.59244230
81Phototransduction_Homo sapiens_hsa047440.58496448
82Longevity regulating pathway - mammal_Homo sapiens_hsa042110.58284086
83Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.57895754
84Glycosaminoglycan degradation_Homo sapiens_hsa005310.57766247
85Type I diabetes mellitus_Homo sapiens_hsa049400.56899547
86Insulin signaling pathway_Homo sapiens_hsa049100.56295822
87Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.53646861
88Alcoholism_Homo sapiens_hsa050340.52612381
89Platelet activation_Homo sapiens_hsa046110.52580090
90Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.51791107
91Glucagon signaling pathway_Homo sapiens_hsa049220.51140250
92Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.50136286
93Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.49989833
94Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.49840548
95Toll-like receptor signaling pathway_Homo sapiens_hsa046200.49360491
96Circadian rhythm_Homo sapiens_hsa047100.48915907
97Focal adhesion_Homo sapiens_hsa045100.48006329
98Prolactin signaling pathway_Homo sapiens_hsa049170.47283133
99Nitrogen metabolism_Homo sapiens_hsa009100.46508061
100Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.46340166
101Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45351371
102Chronic myeloid leukemia_Homo sapiens_hsa052200.44921220
103Central carbon metabolism in cancer_Homo sapiens_hsa052300.44817093
104Tuberculosis_Homo sapiens_hsa051520.44809990
105Proteoglycans in cancer_Homo sapiens_hsa052050.44765321
106B cell receptor signaling pathway_Homo sapiens_hsa046620.44254513
107Regulation of actin cytoskeleton_Homo sapiens_hsa048100.43155552
108Phagosome_Homo sapiens_hsa041450.42461966
109Lysosome_Homo sapiens_hsa041420.40402187
110Salmonella infection_Homo sapiens_hsa051320.39932380
111Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39182894

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